Variant #0000000203 (NC_000001.10:g.227073304A>T, PSEN2(NM_000447.2):c.422A>T)
Individual ID |
00000203 |
Chromosome |
1 |
Allele |
Unknown |
Affects function (as reported) |
Not classified |
Affects function (by curator) |
Not classified |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.227073304A>T |
Reference |
Levy-Lahad E1, Wasco W, Poorkaj P, Romano DM, Oshima J, Pettingell WH, Yu CE, Jondro PD, Schmidt SD, Wang K, et al.(1995) |
DB-ID |
PSEN2_000005 See all 5 reported entries |
Frequency |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Y Yang |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Y Yang |
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Variant on transcripts
Screenings
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